ID   CiRA00021
AC   CVCL_Y961
SY   A21412; HPS0289; HPS0327
DR   RCB; HPS0289
DR   RCB; HPS0327
DR   SKIP; SKIP000626
DR   Wikidata; Q54813390
RX   PubMed=22855461;
RX   PubMed=30127392;
CC   From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 11571; TARDBP; Simple; p.Gln343Arg (c.1028A>G); ClinVar=VCV000005235; Zygosity=Heterozygous (PubMed=22855461).
CC   Discontinued: RCB; HPS0289; probable.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168752; Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_T779 ! CiRA00022
OI   CVCL_T780 ! CiRA00023
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 29-06-23; Version: 11
//
RX   PubMed=22855461; DOI=10.1126/scitranslmed.3004052;
RA   Egawa N., Kitaoka S., Tsukita K., Naitoh M., Takahashi K.,
RA   Yamamoto T., Adachi F., Kondo T., Okita K., Asaka I., Aoi T.,
RA   Watanabe A., Yamada Y., Morizane A., Takahashi J., Ayaki T., Ito H.,
RA   Yoshikawa K., Yamawaki S., Suzuki S., Watanabe D., Hioki H.,
RA   Kaneko T., Makioka K., Okamoto K., Takuma H., Tamaoka A., Hasegawa K.,
RA   Nonaka T., Hasegawa M., Kawata A., Yoshida M., Nakahata T.,
RA   Takahashi R., Marchetto M.C.N., Gage F.H., Yamanaka S., Inoue H.;
RT   "Drug screening for ALS using patient-specific induced pluripotent
RT   stem cells.";
RL   Sci. Transl. Med. 4:145ra104.1-145ra104.8(2012).
//
RX   PubMed=30127392; DOI=10.1038/s41591-018-0140-5;
RA   Fujimori K., Ishikawa M., Otomo A., Atsuta N., Nakamura R.,
RA   Akiyama T., Hadano S., Aoki M., Saya H., Sobue G., Okano H.;
RT   "Modeling sporadic ALS in iPSC-derived motor neurons identifies a
RT   potential therapeutic agent.";
RL   Nat. Med. 24:1579-1589(2018).
//